rs201728948

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs201728948(C;T)

Make rs201728948(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48570639

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs201728948
dbSNP (classic)	rs201728948
ClinGen	rs201728948
ebi	rs201728948
HLI	rs201728948
Exac	rs201728948
Gnomad	rs201728948
Varsome	rs201728948
LitVar	rs201728948
Map	rs201728948
PheGenI	rs201728948
Biobank	rs201728948
1000 genomes	rs201728948
hgdp	rs201728948
ensembl	rs201728948
geneview	rs201728948
scholar	rs201728948
google	rs201728948
pharmgkb	rs201728948
gwascentral	rs201728948
openSNP	rs201728948
23andMe	rs201728948
SNPshot	rs201728948
SNPdbe	rs201728948
MSV3d	rs201728948
GWAS Ctlg	rs201728948

Max Magnitude

0

ClinVar
Risk	rs201728948(T;T)
Alt	rs201728948(T;T)
Reference	Rs201728948(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL7A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000003.11:g.48608072C>T
CLNSRC
CLNACC	RCV000414113.1,